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Mafalda Mucciolo | Researchclopedia

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Mafalda Mucciolo

Bambino Gesù Children's Hospital ORCID

45

Works

1,241

Citations

13

h-index

18

i10-index

Research Topics

Genomic variations and chromosomal abnormalities Genetics and Neurodevelopmental Disorders Pancreatic function and diabetes

Affiliations

University of Siena2009–2017

Ospedale Santa Maria alle Scotte2013–2013

Bambino Gesù Children's Hospital2017–2025

Azienda Ospedaliera Universitaria Senese2015–2015

Istituti di Ricovero e Cura a Carattere Scientifico2020–2025

Top Works

Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of <i>ARID1B</i>

Christina Halgren,Søren K. Kjærgaard,et al.

2011142 citations

Congenital heart defects research

RNA modifications and cancer

Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome

Vittoria Disciglio,Caterina Lo Rizzo,et al.

201498 citations

Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (<i>PARN</i>)

Santhosh Dhanraj,Sethu Madhava Rao Gunja,et al.

201593 citations

A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology

Eugenia Migliavacca,Christelle Golzio,et al.

201571 citations

Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation

Emilia K. Bijlsma,Andrew Collins,et al.

201254 citations

Investigation of modifier genes within copy number variations in Rett syndrome

Rosangela Artuso,Filomena Tiziana Papa,et al.

201138 citations

Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2

Vera Uliana,Elena Marcocci,et al.

201033 citations

Providing more evidence on <i>LZTR1</i> variants in Noonan syndrome patients

Josefina Chinton,Victoria Huckstadt,et al.

201931 citations

Differences between transient neonatal diabetes mellitus subtypes can guide diagnosis and therapy

Riccardo Bonfanti,Dario Iafusco,et al.

202122 citations